Imported Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | MHC class II deficiency | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group b | ClinVar | PMID:9806546 | MHC class II deficiency | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar | PMID:25741868 more ... | MHC class II deficiency | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar | PMID:25741868, PMID:28492532 | MHC class II deficiency | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar | PMID:25741868 | MHC class II deficiency | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: MHC Class II Deficiency | ClinVar | PMID:24033266 | MHC class II deficiency | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: MHC Class II Deficiency | ClinVar | | MHC class II deficiency | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: MHC Class II Deficiency | ClinVar | PMID:28492532 | MHC class II deficiency | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group b | ClinVar | PMID:11313409 | MHC class II deficiency | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group b | ClinVar | PMID:10803838 more ... | MHC class II deficiency | | ISO | RGD:1322827 | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group b | ClinVar | PMID:12618906 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - KEGG (archival)
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Cellular Component
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Molecular Function
Molecular Pathway Annotations
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References
References - curated
| 1. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 2. | GOA data from the GO Consortium |
| 3. | MGD data from the GO Consortium |
| 4. | OMIM Disease Annotation Pipeline |
| 5. | Pipeline to import KEGG annotations from KEGG into RGD |
| 6. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | RGD automated import pipeline for gene-chemical interactions |
| 8. | RGD comprehensive gene curation |
| 9. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
| 10. | Wiszniewski W, etal., Immunogenetics. 2003 Feb;54(11):747-55. Epub 2003 Jan 16. |
Genomics
